A Case of Transient Abnormal Myelopoiesis in Down Syndrome Born from a t(21; 21) Robertsonian Carrier.
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We report an infant with Down syndrome associated with transient abnormal myelopoiesis (TAM), born from a t (21 ; 21) Robertsonian translocation carrier mother. On admission, skin rash developed on the whole body, especially her trunk, and the peripheral white blood cell count (WBC) was 219, 700/, μ1 with 92% blast cells. The chest X-ray showed cardiomegaly and the ultrasonography of the heart revealed pericardial effusion. The blast cells gradually subsided from the age of 35 days and finally disappeared in peripheral blood at the age of 50 days. Skin rash and pericardial effusion diminished with the decreasing of peripheral blast cells. However, brain infarction probably because of hyperviscosity of leukocytosis was found. The hypothesis of "disomic homozygosity" of a mutant gene on chromosome 21 in 21-trisomic cells has been proposed regarding a mechanism responsible for the occurrence of TAM. But we haven't found a report of a Down syndrome with TAM born from a t (21 ; 21) Robertsonian translocation carrier. It may be that our case is important for the study of a mechanism responsible for the occurrence of TAM.
- 特定非営利活動法人 日本小児血液・がん学会の論文
特定非営利活動法人 日本小児血液・がん学会 | 論文
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